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1q25.3-q32.1 deletion causing multisystem developmental delay: a case report and literature review.
Lifang Liu1, Rong Yu1, Weizhong Zhang1
1Department of Neonatology, Huizhou First Maternal and Child Health Care Hospital, Guangdong, China.
A 1q25.3-q32.1 deletion in a pediatric patient is detailed, revealing common clinical features like growth and developmental delays. This rare chromosomal disorder requires early diagnosis via chromosomal microarray analysis (CMA) for better outcomes.
Area of Science:
- Genetics
- Pediatrics
- Developmental Biology
Background:
- 1q25.3-q32.1 deletion is a rare chromosomal abnormality.
- Understanding its genotype-phenotype correlations is crucial for clinical management.
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